Chen D - Search Results

1

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli ER, Brooks BP, Huryn L, Titus SA, Adams DR, Chen D, Gahl WA, Gochuico BR, Malicdan MC. Stephen J, et al. Among authors: chen d. PLoS One. 2017 Mar 15;12(3):e0173682. doi: 10.1371/journal.pone.0173682. eCollection 2017. PLoS One. 2017. PMID: 28296950 Free PMC article.

2

Molecular cloning of two novel rab genes from human melanocytes.

Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Chen D, et al. Gene. 1996 Sep 26;174(1):129-34. doi: 10.1016/0378-1119(96)00509-4. Gene. 1996. PMID: 8863739

3

RAB GTPases expressed in human melanoma cells.

Chen D, Guo J, Gahl WA. Chen D, et al. Biochim Biophys Acta. 1997 Jan 10;1355(1):1-6. doi: 10.1016/s0167-4889(96)00169-3. Biochim Biophys Acta. 1997. PMID: 9030196 Free article.

4

Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.

Chen D, Guo J, Miki T, Tachibana M, Gahl WA. Chen D, et al. Biochem Mol Med. 1997 Feb;60(1):27-37. doi: 10.1006/bmme.1996.2559. Biochem Mol Med. 1997. PMID: 9066979

5

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.

Hazelwood S, Shotelersuk V, Wildenberg SC, Chen D, Iwata F, Kaiser-Kupfer MI, White JG, King RA, Gahl WA. Hazelwood S, et al. Among authors: chen d. Am J Hum Genet. 1997 Nov;61(5):1088-94. doi: 10.1086/301611. Am J Hum Genet. 1997. PMID: 9345105 Free PMC article.

6

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

Markello T, Chen D, Kwan JY, Horkayne-Szakaly I, Morrison A, Simakova O, Maric I, Lozier J, Cullinane AR, Kilo T, Meister L, Pakzad K, Bone W, Chainani S, Lee E, Links A, Boerkoel C, Fischer R, Toro C, White JG, Gahl WA, Gunay-Aygun M. Markello T, et al. Among authors: chen d. Mol Genet Metab. 2015 Mar;114(3):474-82. doi: 10.1016/j.ymgme.2014.12.307. Epub 2014 Dec 24. Mol Genet Metab. 2015. PMID: 25577287 Free PMC article.

7

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Ferreira CR, Chen D, Abraham SM, Adams DR, Simon KL, Malicdan MC, Markello TC, Gunay-Aygun M, Gahl WA. Ferreira CR, et al. Among authors: chen d. Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18. Mol Genet Metab. 2017. PMID: 28041820 Free PMC article.

8

Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.

Botero JP, Chen D, Majerus JA, Coon LM, He R, Warad DM, Pruthi RK, Nichols WL. Botero JP, et al. Among authors: chen d. Platelets. 2018 Jan;29(1):91-94. doi: 10.1080/09537104.2017.1361019. Epub 2017 Nov 1. Platelets. 2018. PMID: 29090612 Free article. Review.

9

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Han CG, O'Brien KJ, Coon LM, Majerus JA, Huryn LA, Haroutunian SG, Moka N, Introne WJ, Macnamara E, Gahl WA, Malicdan MCV, Chen D, Krishnan K, Gochuico BR. Han CG, et al. Among authors: chen d. Am J Med Genet A. 2018 Dec;176(12):2819-2823. doi: 10.1002/ajmg.a.40514. Epub 2018 Oct 4. Am J Med Genet A. 2018. PMID: 30369044 Free PMC article.

10

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.

Power B, Ferreira CR, Chen D, Zein WM, O'Brien KJ, Introne WJ, Stephen J, Gahl WA, Huizing M, Malicdan MCV, Adams DR, Gochuico BR. Power B, et al. Among authors: chen d. Orphanet J Rare Dis. 2019 Feb 21;14(1):52. doi: 10.1186/s13023-019-1023-7. Orphanet J Rare Dis. 2019. PMID: 30791930 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

33,504 results

Search Page

Filters